Canonical Allele Identifier: CA2622977421

Gene: RB1

Linked Data

• dbSNP Id: rs2138028605
• gnomAD v4: 13-48304137-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304138_48304139insGG , CM000675.2:g.48304138_48304139insGG	GRCh38
NC_000013.10:g.48878274_48878275insGG , CM000675.1:g.48878274_48878275insGG	GRCh37
NC_000013.9:g.47776275_47776276insGG	NCBI36
NG_009009.1:g.5392_5393insGG , LRG_517:g.5392_5393insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+89_137+90insGG MANE Select	ENSP00000267163.4:n.137+89_137+90insGG
ENST00000646097.1:c.137+89_137+90insGG	ENSP00000496556.1:n.137+89_137+90insGG
ENST00000650461.1:c.137+89_137+90insGG	ENSP00000497193.1:n.137+89_137+90insGG
ENST00000267163.4:c.137+89_137+90insGG	ENSP00000267163.4:n.137+89_137+90insGG
ENST00000467505.5:c.137+89_137+90insGG	ENSP00000434702.1:n.137+89_137+90insGG
ENST00000525036.1:n.299+89_299+90insGG
NM_000321.2:c.137+89_137+90insGG , LRG_517t1:c.137+89_137+90insGG	NP_000312.2:n.137+89_137+90insGG
NM_000321.3:c.137+89_137+90insGG MANE Select	NP_000312.2:n.137+89_137+90insGG